Wednesday, 30 December 2015

So here we are again. The end of another blogging year and time to reflect on the peer-reviewed research highlights that made it on to Questioning Answers in 2015.

As per other years (see 2011, 2012, 2013 and 2014), it's been another interesting year that I'm gonna break down into research by the months. The question as always is: are we any further forward when it comes to the autism spectrum, it's aetiology, nature and improving quality of life for those on the spectrum? As in previous years, I'm going to be the optimist and say yes, with the important proviso that there is so much more to do, particularly in translating science into practice.

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January
The systematic review came under the spotlight with autism in mind and indeed set the tone for quite a bit of research this year consisting of systematic reviews and meta-analyses. Good for evidence-based practice, perhaps not so good for the value of the N=1. Very good also for telling us how much further research needs to go as words like 'lack of evidence' are thrown around quite a bit. The idea that kids 'at-risk' for autism might be able to avoid autism was also introduced to the world, bearing in mind science headlines might not tell the whole story and when it comes to identifying early autism or autistic traits, we're still missing cases (just in case you didn't know).

February
'What have we learned about autism?' was a post that gave me an opportunity to talk about plural autisms and the impact of comorbidity; some recurrent themes this year as in past ones. February 2015 should however be dedicated to another diagnosis - chronic fatigue syndrome/myalgic encephalomyelitis (CFS/ME) - and some quite astounding scientific leaps made in terms of definition (see here) and acknowledgement that yes, this is a real condition (see here). This theme continued throughout the year.

March
'Sleep is an issue for quite a few people on the autism spectrum' was part of that meta-analysis tide (see here) and further evidence for the 'over-representation' of bowel issues in autism was provided by MoBa. Autism 'genes' and cognitive ability made some media headlines (see here) and perhaps also important to autism was the idea that inflammation might have some knock-on effects for psychological processes such as social cognitive processing (see here).

April
Supplementary fatty acids might not be cutting the scientific mustard for [core] autism according to some evidence (see here) but when it comes to comorbid issues such as inattention, there may be something more to see at least for some. Tics might be common in adult autism as might the need for further medical screening and care when it comes to the eyes (see here). Discussions on DSM-5 and autism also continued (see here); perhaps relevant to on-going debates about the prevalence (and incidence) of autism (see here).

June
Although making difficult reading, the topic of maltreatment and autism was discussed (see here). The idea also that employment is a universal cure-all for everyone on the autism spectrum was also challenged alongside a few of those 'stereotypes' about what kinds of jobs might 'fit' people on the autism spectrum best (see here). Enterovirus encephalitis cropped up twice this month with attention-deficit hyperactivity disorder (ADHD) (see here) and also autism-like (see here) in mind. Knowledge of the impact of viruses is spreading well beyond the somatic it seems (see here).July
'Person with autism or autistic person?' was a question tackled this month. As perhaps expected, it depends on who you ask. The Cochrane Library said 'no' to chelation for autism (see here). Medical comorbidity is high in adult autism (see here) in case you didn't know; and added to all that literature about functional bowel issues being elevated in relation to autism, the inflammatory bowel diseases are also seemingly over-represented among people with autism (see here). But beware of sweeping generalisations as per the idea that air pollution might not show a connection to the presentation of autistic traits (at least in Europe).

December
The idea that practising some of the martial arts might be a useful pastime for some on the autism spectrum continued to tease us (see here). Rather unusually, camel milk as a potential intervention option for some autism also continued on its double-blind, placebo-controlled odyssey (see here). Slightly more worryingly are the findings suggesting that pregnancy antidepressant use might need further examination when it comes to autism (being careful about how to frame such findings) and that almost forgotten nutritionally related diseases such as scurvy might be making a comeback where autism occurs alongside food selectivity issues (see here). Surely preferential screening is indicated from this and other data on other important nutrients? Oh, and PCOS and autism also got some research attention.

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In amongst the 300+ posts that graced this blog in 2015, it's always a little difficult to pick out just one pieve of research that I thought was really, really interesting. I'm going to suggest that the paper by Wang and colleagues [1] talking about vitamin D levels and autism represents a 'one to watch' area. Vitamin D is seemingly getting everywhere at the moment (see here) but alongside some preliminary findings looking at genetics of the vitamin D receptor gene (see here) with autism in mind, I'd wager that we'll be seeing a lot more on this topic in future times.

And with that I wish you all Seasons Greetings and a very Happy New Year.

Tuesday, 29 December 2015

"In this population of Mexican children, current blood lead level among children with low exposure (< 5µg/dL) was positively associated with hyperactive/impulsive behaviors, but not with inattentiveness. These results add to the existing evidence of lead-associated neurodevelopmental deficits at low levels of exposure."

Without pushing specific associations, I'd also suggest that where particular groups of children may be more prone to present with issues with lead (see here) (although not all [3]), science and clinical practice might be minded to think about minimising potential routes of exposure (see here) and perhaps strategies for removing any excess load [4]. Questions about whether there may be underlying biological or genetic 'issues' pertinent to the metabolism of such xenobiotics might also figure, specifically in light of where elements of autism research in particular, have already cast a spotlight (see here).

Nothing good comes from exposure to lead.

Tomorrow (30th December) I have my annual review of research on this blog so please come by and take a look. For now, I leave you with an idea for 2016... bring back Yub Nub (and original Anakin).

A few other important details are mentioned in their paper including how "young female prisoners (aged 18-25) were significantly more likely to report symptoms of ADHD than older prisoners" and "Prisoners who reported symptoms of ADHD also reported high levels of impairment associated with these symptoms."

Avoiding any sweeping generalisations about ADHD and incarceration, there continues to be some potentially important lessons to be learned from such research. That tackling ADHD as and when it presents in childhood might be an important goal is one of them (see here) save any heightened risk of future adverse consequences. More preferential screening for conditions like ADHD in the prison population might also be a good idea also. I might also forward the suggestion (yet again) that when it comes to the management of ADHD-related symptoms specifically in the prison environment, there may be important lessons we can learn from papers such as the one from Bernard Gesch and colleagues [2] set in the context of work from Julia Rucklidge et al (see here) and the importance of nutrition to behaviour...

Thursday, 24 December 2015

Santa is approaching so I don't want to keep you too long today. I just thought you might want to briefly cast your eye over the paper by Sonia Monteiro and colleagues [1] and their findings that: "most children are receiving early intervention services before their diagnostic ASD [autism spectrum disorder] evaluations, particularly if an ASD diagnosis is confirmed."

Set within the context of some rather disturbing reports about children (and adults) sometimes waiting a very, very long time for their assessments, the current findings suggest that in the US at least, some education and healthcare providers might have cottoned on to the fact that early intervention is an important part of managing autism in childhood and such early intervention services shouldn't necessarily wait until formal diagnosis is received.

Perhaps also allied to the Monteiro findings is another paper in the same journal by Christensen and colleagues [2] who, when looking at "ASD prevalence and characteristics among 4-year-old children in 5 of 11 sites participating in the 2010 Autism and Developmental Disabilities Monitoring Network" found that the prevalence of ASD in 4 years "was 30% lower than 8-year-old ASD prevalence." As per an associated commentary [3]: "This finding points to a gap between current knowledge of early manifestations of ASD and our ability to use such knowledge to detect and record ASD symptoms in preschoolers." I might add that given issues such as regression being linked to cases of autism (see here) one has to be mindful of the idea that not all autism might present in the earliest years of life (see here for another example). I'd also suggest that there might be alternative explanations for the finding that 4-year old prevalence of autism was lower than 8-year old prevalence...

Cumulatively what these papers highlight is that there is still some way to go insofar as accurate screening and diagnosis of early days autism (see here) and even when screening points to more thorough assessment for autism, various obstacles remain to get this accomplished in a timely manner. The saving grace being that some educational and healthcare providers think screening positive is enough to facilitate some kind of interventional involvement; at least in some parts of the world.

Taking into account data from 42 eligible trials covering some "2 284 957 persons, with 10 506 diagnosed with schizophrenia" researchers applied some statistical wizardry "to estimate the probability of case of schizophrenia ("prevalence") by type of residency in different years."

The figures make for interesting read as the estimated lifetime prevalence rate of schizophrenia steadily rose between 1990, 2000 and 2010. Further: "In 1990 there were 3.09 (2.87-3.32) million people in China affected with schizophrenia during their lifetime. The number of cases rose to 7.16 (6.57-7.75) million in 2010, a 132% increase, while the total population increased by 18%." As per my opening sentence, area of residence in terms of industrialisation and urbanisation also seemed to exert something of an effect. I might add that this data also seems to have appeared in another publication [2] (open-access).

I have no doubt that the reasons behind the increase in cases of schizophrenia in China are likely to be numerous and complex. To say that there may be just one factor universally contributing to every case of schizophrenia in China would be a fool-hardy thing to state in these days of plural labels (including 'the schizophrenias') and multi-factorial explanations of how someone arrives at such a diagnosis. That screening and assessment facilities have no doubt changed over the course of 20 years in China is also worth mentioning.

I do however want to forward one idea that perhaps requires a little bit more investigation as potentially being pertinent to the increase in prevalence rates: food, and specifically, the idea that gluten consumption may have played a role as per the ideas of the late Curt Dohan. Quite a good overview of 'Dohan's hypothesis' can be read here by Dr Emily Deans from the Evolutionary Psychiatry blog. He basically suggested that where grain (and milk) consumption were rare, so schizophrenia tended to be rare. Conversely, where populations started to take on board grain (and milk) as a staple food, so admission rates for schizophrenia increased. Dohan produced quite a few papers discussing this hypothesis including this one [3] including the idea that foods containing gluten and casein can produce exorphins akin to certain opiates.

In recent times, there has been more interest in Dohan's hypothesis and the idea that some people diagnosed with schizophrenia (or on the schizophrenia spectrum) may demonstrate specific genetic and biological issues associated with gluten and casein. I've blogged about it a few times including the idea of immunological gluten 'sensitivity' in schizophrenia (see here and see here), a possible role for food and gastrointestinal (GI) inflammation in cases (see here) allied to a possible role for milk antibodies in relation to potentially predicting the development of schizophrenia (see here). All of this set in the context of some growing interest in food and nutrition within psychiatry (see here). Such research has met with some criticism down the years but more and more the peer-reviewed evidence is highlighting how things like immune function and the concept of inflammation do seem to be important to various psychiatric labels.

Some of the elements discussed by Dohan and others seem to make sense in the context of schizophrenia and China. The idea of "rates being particularly high in the most developed areas of modern China" might imply that food and the types of food eaten in more developed areas may be slightly different from those in less developed (more traditional) areas of the country. In the context of milk consumption and given the important biology associated with milk consumption in China (quite a high proportion of the population are deemed lactose intolerant), one might also envisage some connection.

I'm not saying that a complex condition like schizophrenia is all down to food within the data coming out of China. What I am saying is that one might entertain the idea that as part of suite of potentially important variables, what someone is eating may have some bearing on their psychiatric health and wellbeing and hence potentially be amenable to change...

Music: Descendents - Everything Sucks. Dedicated to Kylo Ren and, as one of my brood observed when watching the latest Star Wars film, the fact that he is rather an angry man throughout. I'd like to think in subsequent films we might see a 'lighter' side to ole' Ben...

Another, more recent paper from Dr Jyonouchi caught my eye [2], specifically talking about how "clinicians need to be aware of profound effects of allergy rhinitis on neuropsychiatric symptoms in individuals with limited expressive language." This conclusion comes on the basis of her reporting on two cases - "one with ASD [autism spectrum disorder] and the other with developmental delay, congenital deafness, and other multiple congenital anomalies" - attending a pediatric allergy/immunology clinic for "non-IgE mediated food allergy" and "delayed type food allergy around 4–5 years of age" respectively. In both cases treatment was made using "the second line allergy treatment, omalizmab" (also known as omalizumab), a humanised monoclonal antibody that "inhibits binding of IgE to the IgE receptor expressed on effector cells... and blocks allergen induced immune responses." Normally indicated for patients with 'convincing' IgE-mediated asthma (at least here in Blighty), both children were offered this treatment when first line allergy medications (steroid nasal inhalers, a leukotriene receptor antagonist, and topical ophthalmic solutions for ocular allergy) did not seem to be as effective as they should. Some quite surprising effects are detailed as and when omalizumab was started including a "marked attenuation of their problematic neuropsychiatric symptoms and subsequent improvement in the cognitive development, once respiratory allergy symptoms were under control."

For the child (male, 10 years old) diagnosed with autism, Dr Jyonouchi includes some scores based on the Aberrant Behavior Checklist (ABC) subscales illustrating how correlating with the use of omalizumab, several areas of functioning seemed to improve. Also: "Unfortunately, interruption of omalizmab treatment due to delay in insurance approval, following changes in his insurance coverage, resulted in worsening of his behavioral symptoms in 2015 at 16 years of age. This was again resolved after resuming omalizmab treatment."

Although case reports are particularly interesting in the context of the N=1 with autism in mind (see here) and provide some useful starting points for future research, one has to be slightly cautious in generalising such findings to the larger body of people on the autism spectrum. As I've said many times before on this blog, the growing moves towards pluralising autism (see here) represents one of the more enlightened changes in autism research circles. What this means is that what might be a useful intervention for one person on the autism spectrum, might not necessarily translate to others or all.

That being said, I do find the suggestion of a connection between allergy symptoms and autistic and related symptoms to be a tantalising one. I've previously discussed the idea that allergy and autism (and attention-deficit hyperactivity disorder, ADHD) might eventually show some rather surprising links based on what has been seen in the peer-reviewed science domain (see here and see here) and continues to be discussed [3]. The hints from that research were that more needs to be done and specifically, what happens when allergy and related symptoms are 'treated'; something which the latest Jyonouchi paper has seemingly started to take more seriously.

Monday, 21 December 2015

Elevated levels of inflammatory markers present during pregnancy have been linked to quite a few labels and diagnoses down the years. Schizophrenia is a prime example as per various peer-reviewed science with that label in mind (see here). There is still quite a bit more research to do in these days of plural schizophrenias (see here) but the intersection between immune function and psychiatry is a growing area of interest.

Autism is another label that has been talked about with elevated gestational inflammatory markers in mind (see here). CRP or C-reactive protein has tended to be a focus for many studies despite other pentraxins potentially also showing some effect (see here). It is therefore with autism in mind that today I'm discussing the paper by Natasja Koks and colleagues [1] and the suggestion that: "the association between elevated levels of maternal CRP in pregnancy and autistic traits in children is confounded by maternal health-related and socioeconomic factors."

Based initially on measured levels of pregnancy CRP before 18 weeks gestation in quite a large group of mums-to-be based in the Netherlands (N=4165), researchers also collected parental reports of offspring at 6 years of age "using the Social Responsiveness Scale, and the Pervasive Developmental Problem scale." They reported that compared to a reference group: "elevated levels of CRP (>7.8 mg/L) in pregnant women were associated with higher Social Responsiveness Scale scores in children." The Social Responsiveness Scales (SRS) by the way has found some favour in terms of screening for autistic-like traits and symptoms as per other research (see here).

But... things were not so straight-forward when it came to the relationship between pregnancy CRP levels as a marker of inflammation and 6-year old SRS scores as a marker of autistic traits. So: "the effect was strongly attenuated after adjustment for several socioeconomic factors and in particular by maternal health-related factors including body mass index." Further the authors reported "no relation between maternal CRP levels and pervasive developmental problem." In other words, simplistic notions that 'more inflammation during pregnancy = more autistic traits in offspring' might need to be tempered to a degree. Anyone who has followed the autism research scene down the years will not be surprised at such sentiments.

One obviously has to be a little guarded when it comes to studies such as this where variables stretching back into the important nine months that made us are 'correlated' with measures quite a few years later. As per similar work with an autism research slant looking at such widely-spaced apart variables (see here) there may be a multitude of other important variables and factors to consider.

"Further studies are needed to explore whether other maternal inflammatory markers during pregnancy, as a response to maternal inflammation, are associated with the development of autistic traits in the offspring." Going back to my previous discussions about CRP being only one of several potential inflammatory markers that might need to be explored (including the various cytokines that have cropped up over the years) I'd be minded to suggest that there is good sense in looking at a wider selection of immune related compounds when it comes to the question of immune mediation being potentially linked to at least some offspring autism or the presentation of autistic traits. Alongside ideas that acute inflammation might have some interesting links to things like social cognitive processing (see here) and that within the vast heterogeneity of autism, there may be cases where infection stands out as a possible aetiological factor (see here) there are plenty of avenues to be explored by science in this area.

Fifty-six children and adolescents diagnosed with DSM-IV autism spectrum disorder (ASD) participated in their study, drawn from a previous cohort of 89 involved in previous research by these authors. A range of measures were included for study including a focus on sleep and functional bowel issues.

When it came to describing this smaller cohort two years after their original research participation, examination of current comorbid diagnoses alongside ASD showed a worrying trend insofar as rates of epilepsy, attention-deficit hyperactivity disorder (ADHD) and anxiety disorder. An additional 5 children/young adults presented with ADHD at this second time of study for example. Three participants also presented with an anxiety disorder this time around. These are perhaps not unexpected findings (see here and see here).

Drilling down further into the presented data, a few other trends are present:

Gastrointestinal (GI) symptoms, as measured on the Gastrointestinal Symptom Inventory from the ATN, were also notable in this cohort. Nearly three-quarters of participants presented with at least on GI symptom within the last 3 months. A smaller group (7%) presented with 5 GI symptoms recently. GI symptoms also persisted in over 80% of participants during the 2-year period before this follow-up study.

GI and sleep issues also seemed to go hand-in-hand. Almost two-thirds of the cohort "presented with both sleep problems and gastrointestinal symptoms" as evidenced when specific GI symptoms were analysed (bloating, nausea, abdominal pains, diarrhoea and constipation).

Researchers also questioned about family medical history as well as participants. Alongside the figure already presented about familial autoimmune disease, various other "psychological, developmental or medical disorder" were noted.

Osteoarthritis, psoriasis and hypothyroidism (Hashimoto's thyroiditis) were the most common familial autoimmune conditions described in this cohort. Mention is however also made about Crohn's disease (n=9) and coeliac disease (n=4) too.

Obviously one has to keep in mind a few salient points before getting to carried away with this information. The participant numbers on the first occasion (N=89) and this time around (N=56) are quite small. The authors also note that the use of "parental report" might also be considered a limitation; balancing that however by making reference to the Phillip Gorrindo paper [3] covered in previous posts (see here) on how: "Parents were sensitive to the existence, although not necessarily the nature, of GID [gastrointestinal dysfunction]".

That all being said, the trends reported by Mannion & Leader are consistent with previous peer-reviewed data on the issue of comorbidity and autism. Sleep problems are pretty widespread (see here) as are functional bowel issues (see here). Indeed, even more pathological bowel issues seem to be 'over-represented' when it comes to a diagnosis of autism (see here). That the two issues might be somehow 'joined together' has also been previously raised in the research literature (see here).

The reports on certain familial health conditions being associated with cases of autism is also not new news. I've long speculated about the role of familial autoimmune conditions and autism on this blog (see here and see here) on the back of research spanning several decades (see here). Talk specifically of a connection between the skin condition psoriasis and autism is included (see here) as is the idea that both inflammatory bowel conditions (see here) and more food-related bowel states (see here) might in some families, show a connection to autism. Much more study is implied including a focus on the N=1 [4].

The idea that autoimmune disease specifically affecting the thyroid might also be a route of further scientific inquiry with autism in mind is something of real interest in light of quite a bit of other research in this area (see here and see here). As I've mentioned in previous posts, the idea that familial autoimmune disease affecting the thyroid might also be related to the onset of presentation of offspring autism [5] is a research topic crying out for further replication. The possibility of an association also opens up a number of other avenues for study based on the idea that autoimmune features might reflect one or more 'types' of autism (see here) or indeed, linked to one or more of the common comorbidities occurring alongside autism (see here and see here). Speculations are potentially aplenty in this area (see here) so we need more hard data.

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[1] Mannion A. & Leader G. An investigation of comorbid psychological disorders, sleep problems, gastrointestinal symptoms and epilepsy in children and adolescents with autism spectrum disorder: A two year follow-up. Research in Autism Spectrum Disorders. 2016; 22: 20-33.

[2] Mannion A. et al. An investigation of comorbid psychological disorders, sleep problems, gastrointestinal symptoms and epilepsy in children and adolescents with autism spectrum disorder: A two year follow-up. Research in Autism Spectrum Disorders. 2013; 7: 35-42.

Saturday, 19 December 2015

"We found that maternal diagnosis of PCOS [polycystic ovary syndrome] increased the risk of ASD [autism spectrum disorder], even after adjusting for potential confounders. Obesity among women with PCOS appeared to further increase the risk of ASD in the offspring. The risk associated with PCOS was similar in males and females."

Those were some of the main findings reported in the paper by Kyriaki (Sunday) Kosidou and colleagues [1] (open-access) who conducted a case-control study in Sweden looking at "23 748 ASD cases and 208 796 controls, matched by birth month and year, sex and region of birth." PCOS - an endocrine disorder characterised by polycystic ovaries, irregular periods and elevated levels of male hormones (androgens) - "was classified according to any lifetime recorded diagnosis (ICD-8: 256.90, ICD-9: 256E and ICD-10: E28.2)." The frequency of maternal PCOS alongside various other potentially confounding variables were analysed across the groups. Some media about the study can be seen here.

As per the opening paragraph, there did appear to be something to see when looking at rates of maternal PCOS where offspring autism was mentioned. One hundred and sixty-nine mothers of children with autism were found to have had a diagnosis of PCOS (0.7%) compared with 837 control mothers (0.4%). The difference (0.7% vs 0.4%) was deemed statistically significant (<0.001). That being said, and as with many factors when it comes to autism, differences were also noted across quite a few other parameters too such that 'maternal essential hypertension' was more frequently reported in mothers of children with autism compared with controls (1% vs. 0.8% respectively). Rates of diabetes mellitus were also significantly elevated (autism: 1.2% vs. controls: 0.8%). I'll come back to these findings shortly.

A few more details might also be useful to mention including: "The odds of offspring ASD were further increased among mothers with both PCOS and obesity, a condition common to PCOS that is related to more severe hyperandrogenemia." That and that fact that: "Risk estimates did not differ between sexes" and we have some potentially important results that "awaits confirmation, and exploration of potentially underlying mechanisms."

Going back to the data on maternal hypertension and/or maternal diabetes as also showing some possible 'connection' to offspring autism, I've covered these variables before based on other independent peer-reviewed findings (see here and see here respectively). Maternal diabetes, specifically gestational diabetes, is something where the research evidence is increasingly converging in terms of an elevated risk of offspring autism. Mechanisms of effect are however, a little in short supply outside of talk about more autoimmune mediated diabetes (type 1 diabetes) and autism (see here). Maternal obesity and offspring autism has similarly figured in the peer-reviewed literature (see here).

Reiterating that there is more to do in this area of autism research, I do find the Kosidou results to be interesting. That preferential screening of offspring autism might be offered to women diagnosed with PCOS could be one consideration from such results; another might be for further research to focus on how PCOS and "elevated steroidopathic symptoms" might also feature among some people with an autism diagnosis or autistic traits in mind [4]. That being said, I must re-state that the overall numbers of diagnosed cases of PCOS in mums to children with autism was quite small...

Detailing the experiences of a 15-year old boy diagnosed with an autism spectrum disorder (ASD) and "neurocardiogenic syncope" (fainting characterised by reduced blood circulation to the brain), authors report on how his admission to hospital for self-injury "secondary to depression" came to reveal some potentially important clinical issues.

In particular, the authors detail how some of the stressors potentially pertinent to the reasons for his admission seemed to include an awareness of his mother's "declining health due to a mitochondrial disease" and "his own concerns about his future health, given his previous “spells” (syncopal episodes secondary to his diagnosis of neurocardiogenic syncope)."

The mother of the young adult did indeed also suffer from neurocardiogenic syncope alongside various other issues including Ehlers-Danlos syndrome and "a Budd-Chiari type 2 malformation that required surgical decompression." Alongside other symptoms, her profile was considered "typical for a patient with a mitochondrial disease."

There is a degree of disconnect in the article by Brown & Rais insofar as how mitochondrial issues and autism are discussed quite a bit but as far as I can see, no specific assessment for such issues was carried out with the young man concerned. Rather, the implication is that a family history of mitochondrial issues should trigger similar assessment in those with autism save viewing such disorders as a zebra - "an obscure diagnosis that is made when a more common explanation is more likely."

One other detail also caught my eye in terms of how maternal Ehlers-Danlos syndrome (EDS) is discussed by Brown & Rais. I'm particularly interested in the idea that disorders of connective tissue might be something to look at in the context of [some] autism (see here). I say this on the basis of joint mobility issues and gait being something of potential interest to cases of autism and how issues with collagen for example, are more likely present when something like vitamin C deficiency is observed (as it has been in some cases of autism).

Physician and researchers alike perhaps should have a high index of suspicion for mitochondrial disease involvement in at least some cases of autism. And just in case this needs reiterating [4]...

Thursday, 17 December 2015

Of the many important lessons that I've learned down the years of research, perhaps the most important one is that grand over-arching diagnostic labels rarely give a true reflection of the massive heterogeneity that they include in terms of clinical presentation and onwards, discussions about the possibility of differing aetiologies and pathologies. Symptoms, conditions, and diseases are compartmentalised for convenience but that does not mean that everyone shares the same experiences of that label nor arrives at it in exactly the same way.

The authors report on how this patient had a 20-year history of fatigue that developed "after a viral illness" (there was evidence of "previous exposure to Epstein-Barr virus") and how after 3 months of "being unable to keep awake" fatigue symptoms fluctuated over several years. When presented to the authors, the woman "complained of being tired all the time, near constant headache, fogginess in the head, an inability to concentrate, muscle and joint aches, shortness of breath, and a sore throat." I had to cast a wry smile at the sentence: "She refused cognitive behavioral therapy" in light of some current goings-on with this and other 'interventions' being discussed in chronic fatigue syndrome (CFS) circles.

Kudos to the authors however and their protocol being developed whereby patients who present with chronic fatigue and headaches are "offered investigations to exclude raised intracranial pressure" as a source of their symptoms based on other studies reported by the research team [2]. Indeed, after some further investigations she showed symptoms "consistent with raised intracranial pressure." Treatment followed (although I wouldn't even begin to pretend that I understood it all) and that 'life-changing remission of symptoms' began and continued up to 2 years post diagnosis and intervention.

Not surprisingly the authors conclude that: "The unequivocally favorable outcome suggests that this is an area ripe for further study" based on this case report. Yes, one has to be careful not to generalise too much on the basis of the experiences of one patient, but given the current lack of effective interventions for something like CFS (or myalgic encephalomyelitis, ME), I'd suggest that there should be a degree of urgency to undertake additional studies in this area.

In addition to providing further evidence to suggest that we need to do more about looking at subgroups when it comes to CFS/ME (see here), I'd also be minded to suggest that this research area might also show more than a passing connection to a few other aspects covered on this blog. So for example, the idea that visual perception might be 'altered' as a symptom in at least some CFS/ME (see here) becomes potentially relevant in light of the link between idiopathic intracranial hypertension (IIH) and vision. The reports that "fogginess in the head" might also be part of the suite of cognitive effects that follow ME/CFS and are to some degree resolved by treatment of IIH in this patient group is also something that I pay quite a bit of attention to (see here). I'll finally direct you to a couple of posts I wrote about some research on Epstein-Barr virus (EBV) and some rather unusual findings (see here and see here) potentially relevant to some cases of CFS/ME with the requirement for quite a bit more research to do as part of a more multi-pronged intervention approach.

So, who is going to take up the research gauntlet and put further scientific flesh on the bones pertinent to a possible connection between IIH and [some] cases of CFS?

Wednesday, 16 December 2015

Appreciating that the subject matter of today's post might not necessarily align with the season that is upon us, I wanted to bring to your attention the paper by Michael Westerlund and colleagues [1] (open-access) and some rather disturbing discussions related to a young man who "decided to hang himself and to display the suicidal act" on an internet forum.

Published in the British Journal of Psychiatry, the paper set about examining how "participants on an internet forum act and react faced with suicidal communication and while witnessing the suicidal act." This was done via "a qualitative investigation of the messages that were posted before the TS's [thread starter] suicide and a combined qualitative–quantitative analysis of the messages posted during and after the suicide." A total of 30 posts before the suicide and 608 posts during and after the suicide were examined.

Several themes are discussed in the paper in terms of the authenticity of the discussions, attitudes towards the suicide, opportunities for prevention and: "Responsibility for the TS's suicide." There are some, quite frankly, awful comments discussed in this paper that I won't be repeating on this blog. Importantly however, the authors highlight a few lessons that might be learned from such events based on the fact that "the internet has developed as the main channel for suicide communication" and the possibility that lives could be potentially saved with the right tools for identifying and responding to "individuals who communicate suicide intentions on different forums on the internet." As per another quote from the paper: "the internet can be a facilitator of the suicidal process, but it can also be a venue where opportunities for prevention of suicide loom large."

The idea that the internet can be a source of positive information when it comes to reducing the risk of suicide is evident in the peer-reviewed domain [2]. Sueki & Ito [3] discussed the idea of on-line gatekeeping to prevent suicide "by placing advertisements on web search pages to promote consultation service use among Internet users with suicidal ideation." Social media has also been discussed as a good tool to deliver "a range of suicide prevention activities" [4]. The trick, it seems, is getting the relevant information and expertise to those who are currently vulnerable whilst at the same time avoiding issues like possible contagion. I might add that whilst the internet might have a significant role to play in suicide, it does not and should not represent the sum total of discussions about suicide and any potentially related issues (see here).

Bearing in mind the caveats of this blog about not giving medical or clinical advice, I did wonder if it might be useful to link to something like this page containing quite a few points and further links if and when discussions about suicide are raised. For anyone here in Blighty in need, details for the Samaritans can also be found here.

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Questioning Answers

About Me

I have been involved in autism research for more years than I care to remember. My Questioning Answers blog (http://questioning-answers.blogspot.com/) is a place to describe and discuss various research into autism spectrum and related conditions. My Gutness Gracious Me blog (http://gutness-gracious-me.blogspot.com/) is for discussions on various gastrointestinal research. I make no recommendations, I am not giving any medical advice, I am not formulating any specific opinions and do not want to get into any ethical, political or religious debates. I am not trying to change anyone's opinions, views, beliefs or anything else. These are purely blogs about science and research in autism and a few other interesting things. Any posts I make are my own opinions and not reflective of any organisation I am affiliated to. Keep in mind that science deals with probabilities not absolutes.

ABOUT AUTISM SPECTRUM CONDITIONS

Autism or autism spectrum conditions describe several presentations characterised by core issues with social affect and stereotyped or repetitive actions. Diagnosis is made by observation and analysis of developmental history. These are heterogeneous conditions which can carry various co-morbidities and whilst described as life-long are affected by age and maturation. Autism means different things to different people. To some it means a need for life-long support. To others it is part of the varied tapestry of humanity. To all it means a need to foster a welcoming society with appropriate support and opportunities.